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HERO ID
2756225
Reference Type
Journal Article
Title
Male pseudohermaphroditism due to testicular 17-ketosteroid reductase deficiency
Author(s)
Schaison, G; Sitruk, LR
Year
1976
Is Peer Reviewed?
Yes
Journal
Hormone and Metabolic Research
ISSN:
0018-5043
EISSN:
1439-4286
Volume
8
Issue
4
Page Numbers
307-310
Language
English
PMID
133980
DOI
10.1055/s-0028-1093642
Abstract
A new case of testicular 17 ketosteroid reductase (17 KSR) deficiency without gynecomastia was investigated. Delta4 androstenedione (15.6 ng/ml) was ten times the normal range, unchanged after dexamethasone administration. In contrast, plasma testosterone (4.1 ng/ml) was in the low normal male range and plasma dehydroepiandrosterone (4.2 ng/ml) was normal. Plasma luteinizing hormone and follicle-stimulating hormone were increased (162 and 470 ng/ml LER 907 respectively). After adrenal suppression and human chorionic gonadotropin stimulation, the increase of delta4 androstenedione was in contrast with the inertia of testosterone. In spermatic venous plasma delta4 androstenedione level (293.2 ng/ml) was very high and testosterone level (7.1 ng/ml) a hundred times below the normal mean. Plasma estrone (124 pg/ml) was increased and estradiol (22 pg/ml) was normal. In spermatic venous plasma estrone was elevated and estradiol very low (1380 and 32 pg/ml respectively). It is the third case of 17 KSR deficiency where the lack of E2 increase explains the absence of gynecomastia.
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